Varaico: Literature-Extracted Genetic Variants

NR2E3

434 papers

RefSeq Summary

This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic developmen...

Pfam Domains

zf-C4aa 45–115UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 205–395UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group E member 3

HGNC Alias Symbols

PNR; rd7; RP37

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_014249.4

p.V49M

c.145G>A

Surrounding Variants

1 paper

NM_014249.4

p.V49insFs

c.146dupT

1 paper

NM_014249.4

p.R48Fs

c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCAFs

4 papers

NM_014249.4

p.R48C

c.142C>T

2 papers

NM_014249.4

p.R48fs

c.142_143fs

1 paper

NM_014249.4

p.C50_G51del1

c.149_151delGCG

1 paper

NM_014249.4

p.G51_S54del0

c.151_162del12

1 paper

NM_014249.4

p.C47S

c.140G>C

8 papers

NM_014249.4

p.G51R

c.151G>A

8 papers

NM_014249.4

p.G51R

c.151G>C

1 paper

NM_014249.4

p.C47S

c.139T>A

1 paper

NM_014249.4

p.G51E

c.152G>A

2 papers

NM_014249.4

p.Q46*

c.136C>T